Canonical Allele Identifier: CA543048542

Gene: LAMB2

Linked Data

• dbSNP Id: rs1447289164
• gnomAD v2: 3-49160291-GA-G
• gnomAD v4: 3-49122858-GA-G
• MyVariant Identifiers: chr3:g.49160292del (hg19) ; chr3:g.49122859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122859del , CM000665.2:g.49122859del	GRCh38
NC_000003.11:g.49160292del , CM000665.1:g.49160292del	GRCh37
NC_000003.10:g.49135296del	NCBI36
NG_008094.1:g.15308del
NG_054716.1:g.3080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4418del MANE Select	ENSP00000307156.4:p.Ile1473ThrfsTer?
ENST00000305544.8:c.4418del	ENSP00000307156.4:p.Ile1473ThrfsTer?
ENST00000418109.5:c.4418del	ENSP00000388325.1:p.Ile1473ThrfsTer?
ENST00000469665.1:n.727del
NM_002292.3:c.4418del	NP_002283.3:p.Ile1473ThrfsTer?
XM_005265127.3:c.4418del	XP_005265184.1:p.Ile1473ThrfsTer?
XM_005265127.4:c.4418del	XP_005265184.1:p.Ile1473ThrfsTer?
NM_002292.4:c.4418del MANE Select	NP_002283.3:p.Ile1473ThrfsTer?